ClinVar

NM_000548.5(TSC2):c.2747T>G (p.Leu916Arg)

Gene:

TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2076495 (on Assembly GRCh38)
• Chr16: 2126496 (on Assembly GRCh37)

Preferred name:

NM_000548.5(TSC2):c.2747T>G (p.Leu916Arg)

HGVS:

• NC_000016.10:g.2076495T>G
• NG_005895.1:g.32190T>G
• NM_000548.5:c.2747T>GMANE SELECT
• NM_001077183.3:c.2747T>G
• NM_001114382.3:c.2747T>G
• NM_001318827.2:c.2636T>G
• NM_001318829.2:c.2600T>G
• NM_001318831.2:c.2147T>G
• NM_001318832.2:c.2780T>G
• NM_001363528.2:c.2747T>G
• NM_001370404.1:c.2747T>G
• NM_001370405.1:c.2747T>G
• NM_021055.3:c.2747T>G
• NP_000539.2:p.Leu916Arg
• NP_001070651.1:p.Leu916Arg
• NP_001107854.1:p.Leu916Arg
• NP_001305756.1:p.Leu879Arg
• NP_001305758.1:p.Leu867Arg
• NP_001305760.1:p.Leu716Arg
• NP_001305761.1:p.Leu927Arg
• NP_001350457.1:p.Leu916Arg
• NP_001357333.1:p.Leu916Arg
• NP_001357334.1:p.Leu916Arg
• NP_066399.2:p.Leu916Arg
• LRG_487t1:c.2747T>G
• LRG_487:g.32190T>G
• NC_000016.9:g.2126496T>G
• NM_000548.3:c.2747T>G
• p.(Leu916Arg)

This HGVS expression did not pass validation

Protein change:

L716R

Links:

Tuberous sclerosis database (TSC2): TSC2_01091; dbSNP: rs137854405

NCBI 1000 Genomes Browser:

rs137854405

Molecular consequence:

• NM_000548.5:c.2747T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077183.3:c.2747T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001114382.3:c.2747T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318827.2:c.2636T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318829.2:c.2600T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318831.2:c.2147T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318832.2:c.2780T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363528.2:c.2747T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370404.1:c.2747T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370405.1:c.2747T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_021055.3:c.2747T>G - missense variant - [Sequence Ontology: SO:0001583]